Results 81 to 90 of about 581 (153)
Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy
Clinical Genetics, EarlyView.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Clinical Genetics, EarlyView.A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk +13 more
wiley +1 more source
Mäetagused, 1997 The author introduces the Vepsian chants, fairy tales, proverbs, performing situation and the best performers, material about which was collected in the past few years.
Kristi Salve
doaj
BILINGUAL TEXT′S FEATURES IN THE HISTORY OF KARELIAN LITERATURE
Transactions of the Karelian Research Centre of the Russian Academy of Sciences, 2015 This article analyses typical themes and features of bilingual lyric poetry of national Karelian poets O.Mishin – A.Hiiri (ethnic Ingrian Finn, who makes verses in the Finnish and Russian languages), A.Volkov (ethnic Karelian, who makes verses in the ...
Maria Kazakova
doaj +1 more source
Shocks and Vulnerability in Rural Tanzania
Review of Development Economics, EarlyView.ABSTRACT This paper examines the relative importance of idiosyncratic and covariate shocks in shaping household vulnerability to poverty in rural Tanzania. Using five rounds of the Tanzanian National Panel Survey and a three‐level multilevel modeling framework, we account for the hierarchical structure of the data and decompose consumption variance ...
Tseday J. Mekasha +2 more
wiley +1 more source
Writing the History of the Northern “Field” : An Introductory Note [PDF]
, 2017 This issue became possible thanks to two research projects “Etnos: A Life History of the Etnos Concept among the Peoples of the North” (ESRC, UK) and “Etnos and Minzu: Histories and Politics of Identity Governance in Eurasia” (The Leverhulme Trust, UK ...
Arzyutov, Dmitry
core +2 more sources
Veterinary and Comparative Oncology, EarlyView.ABSTRACT Spontaneously occurring primary canine pulmonary adenocarcinoma (cPAC) exhibits clinicopathological and molecular similarities to never‐smoker human lung cancers. Shared genomic alterations, including point mutations, indel mutations and copy number changes particularly in HER2 signalling, are significant therapeutic targets, especially for ...
Sharadha Sakthikumar +10 more
wiley +1 more source
ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis
Veterinary Dermatology, EarlyView.ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake +2 more
wiley +1 more source
How Old Are the River Names of Europe? A Glottochronological Approach [PDF]
, 2011 The names of large rivers are among the diachronically most stable of all words. The present glottochronological study aims to quantify the lexical preservation rate of this set of words, more specifically of the names of the largest rivers of Europe ...
Peust, Carsten
core +2 more sources
Influence of MC1R Gene Variants on Coat Color of Indicine Cattle Breeds
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT Indicine cattle display a broad range of coat colors, representing a relevant and breed‐defining trait required for registration in breeder association. Among the genes involved in pigmentation, MC1R stands out for modulating the synthesis of melanin‐related proteins and remains poorly explored in indicine cattle breeds. Therefore, we aimed to
Silel V. S. A. Maciel +12 more
wiley +1 more source